Incidental Mutation 'R2321:Abcf2'
| ID |
245636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcf2
|
| Ensembl Gene |
ENSMUSG00000028953 |
| Gene Name |
ATP-binding cassette, sub-family F member 2 |
| Synonyms |
0710005O05Rik, Drr3 |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24770343-24782465 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 24772251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 492
(Y492*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030795]
|
| AlphaFold |
Q99LE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030795
AA Change: Y492*
|
| SMART Domains |
Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: Y492*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
AAA
|
115 |
308 |
1.6e-6 |
SMART |
|
AAA
|
427 |
595 |
6.32e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
Het |
|
| Other mutations in Abcf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Abcf2
|
APN |
5 |
24,773,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02867:Abcf2
|
APN |
5 |
24,776,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03325:Abcf2
|
APN |
5 |
24,779,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Abcf2
|
APN |
5 |
24,776,246 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0281:Abcf2
|
UTSW |
5 |
24,771,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Abcf2
|
UTSW |
5 |
24,778,463 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0815:Abcf2
|
UTSW |
5 |
24,772,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Abcf2
|
UTSW |
5 |
24,779,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1793:Abcf2
|
UTSW |
5 |
24,773,774 (GRCm39) |
missense |
probably benign |
|
|
R5006:Abcf2
|
UTSW |
5 |
24,781,535 (GRCm39) |
nonsense |
probably null |
|
|
R5765:Abcf2
|
UTSW |
5 |
24,778,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Abcf2
|
UTSW |
5 |
24,774,156 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Abcf2
|
UTSW |
5 |
24,774,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6906:Abcf2
|
UTSW |
5 |
24,773,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6980:Abcf2
|
UTSW |
5 |
24,770,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8266:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8267:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8290:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8294:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8295:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8446:Abcf2
|
UTSW |
5 |
24,771,641 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Abcf2
|
UTSW |
5 |
24,776,191 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9061:Abcf2
|
UTSW |
5 |
24,778,504 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9342:Abcf2
|
UTSW |
5 |
24,778,475 (GRCm39) |
missense |
probably benign |
|
|
R9478:Abcf2
|
UTSW |
5 |
24,770,940 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9518:Abcf2
|
UTSW |
5 |
24,771,560 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9667:Abcf2
|
UTSW |
5 |
24,779,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCCCATTGTGCATGAC -3'
(R):5'- GGGAACACATCTGTCCAACC -3'
Sequencing Primer
(F):5'- TGCATGACACTACAGAGGAAAG -3'
(R):5'- TCCTCTGGGAACATAACCCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation